Drug Treatment of Progressive Myoclonic Epilepsy.
Drug Treatment of Progressive Myoclonic Epilepsy.
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DOI：
10.1007/s40272-019-00378-y
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发表时间：
2020-04
期刊：
影响因子：
--
通讯作者：
Holmes GL
中科院分区：
文献类型：
--
作者：
Holmes GL
进行性肌阵挛性癫痫是一组罕见但具有破坏性的综合征，其特征在于癫痫性肌阵挛，通常是动作诱导的，神经退行性，医学难治性癫痫以及取决于特定综合征的各种其他体征和症状。大多数进行性肌阵挛性癫痫开始于正常发育的儿童，其疾病的发作预示着肌阵挛性和其他癫痫发作类型。虽然有相当数量的异质性的条件，医学难治性癫痫，特别是肌阵挛发作，是一个核心特征。随着分子遗传学技术的日益广泛应用，突变及其异常蛋白产物正在被描绘出来，为基于疾病的治疗提供了基础。然而，基因和酶的替代或底物的去除还处于初期阶段，主要的治疗方法是通过抗癫痫药物。进行性肌阵挛发作的儿童癫痫是众所周知的难以治疗。由于这种疾病的罕见性，很少有双盲，安慰剂对照试验在PME和药物的选择是基于小型开放标签试验或从其他肌阵挛发作综合征的药物试验数据外推。本文综述了PME的主要综合征、神经遗传学基础、病理生理学基础、脑电图特征和目前可用的治疗方法。
The progressive myoclonic epilepsies are a rare but devastating group of syndromes characterized by epileptic myoclonus, typically action-induced, neurological regression, medically refractory epilepsy and a variety of other signs and symptoms depending on the specific syndrome. Most of the progressive myoclonic epilepsies begin in normally developing children with the onset of the disorder heralded by myoclonic and other seizure types. While there is a considerable amount of heterogeneity in the conditions, medical intractability to epilepsy, particularly myoclonic seizures, is a core feature. With the increasing use of molecular genetic techniques, mutations and their abnormal protein products are being delineated, providing a basis for disease-based therapy. However, genetic and enzyme replacement or substrate removal are in the nascent stage and the primary therapy is through antiepileptic drugs. Epilepsy in children with progressive myoclonic seizures is notoriously difficult to treat. Because of the rarity of the disorder there have been few double-blinded, placebo-controlled trials in PME and drugs are chosen based on small open-label trials or extrapolation of data from drug trials of other syndromes with myoclonic seizures. In this review the major PME syndromes, their neurogenetic basis, pathophysiological underpinning, electroencephalographic features and currently available treatments are provided.
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